Found: 30

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  • Association of Mitochondrial Biogenesis With Variable Penetrance of Schizophrenia.

    Published in:
    2021
    By:
    • Li, Jianping;
    • Tran, Oanh T.;
    • Crowley, T. Blaine;
    • Moore, Tyler M.;
    • Zackai, Elaine H.;
    • Emanuel, Beverly S.;
    • McDonald-McGinn, Donna M.;
    • Gur, Raquel E.;
    • Wallace, Douglas C.;
    • Anderson, Stewart A.
    Publication type:
    journal article

  • Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 64, doi. 10.1002/ajmg.a.63385
    By:
    • Nriagu, Bede N.;
    • Williams, Lydia S.;
    • Brewer, Niambi;
    • Surrey, Lea F.;
    • Srinivasan, Abhay S.;
    • Li, Dong;
    • Britt, Allison;
    • Treat, James;
    • Crowley, T. Blaine;
    • O'Connor, Nora;
    • Ganguly, Arupa;
    • Low, David;
    • Queenan, Maria;
    • Drivas, Theodore G.;
    • Zackai, Elaine H.;
    • Adams, Denise M.;
    • Hakonarson, Hakon;
    • Snyder, Kristen M.;
    • Sheppard, Sarah E.
    Publication type:
    Article

  • The experience of one pediatric geneticist with telemedicine‐based clinical diagnosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3416, doi. 10.1002/ajmg.a.62920
    By:
    • Campbell, Ian M.;
    • Crowley, T. Blaine;
    • Keena, Beth;
    • Donoghue, Sarah;
    • McManus, Morgan L.;
    • Zackai, Elaine H.
    Publication type:
    Article

  • Cardiac evaluation of patients with 22q11.2 duplication syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 753, doi. 10.1002/ajmg.a.62032
    By:
    • Butensky, Adam;
    • Rinaldis, Chiara Pandolfi;
    • Patel, Shrey;
    • Edman, Sharon;
    • Bailey, Alice;
    • McGinn, Daniel E.;
    • Zackai, Elaine;
    • Crowley, T. Blaine;
    • McDonald‐McGinn, Donna M.;
    • Min, Jungwon;
    • Goldmuntz, Elizabeth
    Publication type:
    Article

  • Increased T‐cell counts in patients with 22q11.2 deletion syndrome who have anxiety.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1815, doi. 10.1002/ajmg.a.61588
    By:
    • Dou, Ying;
    • Blaine Crowley, T;
    • Gallagher, Sean;
    • Bailey, Alice;
    • McGinn, Daniel;
    • Zackai, Elaine;
    • Gur, Raquel E.;
    • McGinn, Donna McDonald;
    • Sullivan, Kathleen E.
    Publication type:
    Article

  • Palatal evaluation and treatment in 22q11.2 deletion syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1184, doi. 10.1002/ajmg.a.61152
    By:
    • Jackson, Oksana;
    • Crowley, T. Blaine;
    • Sharkus, Robert;
    • Smith, Robert;
    • Jeong, Stephanie;
    • Solot, Cynthia;
    • McDonald‐Mcginn, Donna
    Publication type:
    Article

  • Cover Image, Volume 176A, Number 10, October 2018.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. i, doi. 10.1002/ajmg.a.60697
    By:
    • Campbell, Ian M.;
    • Sheppard, Sarah E.;
    • Crowley, T. Blaine;
    • McGinn, Daniel E.;
    • Bailey, Alice;
    • McGinn, Michael J.;
    • Unolt, Marta;
    • Homans, Jelle F.;
    • Chen, Erin Y.;
    • Salmons, Harold I.;
    • Gaynor, J. William;
    • Goldmuntz, Elizabeth;
    • Jackson, Oksana A.;
    • Katz, Lorraine E.;
    • Mascarenhas, Maria R.;
    • Deeney, Vincent F. X.;
    • Castelein, René M.;
    • Zur, Karen B.;
    • Elden, Lisa;
    • Kallish, Staci
    Publication type:
    Article

  • What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2058, doi. 10.1002/ajmg.a.40637
    By:
    • Campbell, Ian M.;
    • Sheppard, Sarah E.;
    • Crowley, T. Blaine;
    • McGinn, Daniel E.;
    • Bailey, Alice;
    • McGinn, Michael J.;
    • Unolt, Marta;
    • Homans, Jelle F.;
    • Chen, Erin Y.;
    • Salmons, Harold I.;
    • Gaynor, J. William;
    • Goldmuntz, Elizabeth;
    • Jackson, Oksana A.;
    • Katz, Lorraine E.;
    • Mascarenhas, Maria R.;
    • Deeney, Vincent F. X.;
    • Castelein, René M.;
    • Zur, Karen B.;
    • Elden, Lisa;
    • Kallish, Staci
    Publication type:
    Article

  • The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2167, doi. 10.1002/ajmg.a.40535
    By:
    • Grand, Katheryn;
    • Levitt Katz, Lorraine E.;
    • Crowley, T. Blaine;
    • Moss, Edward;
    • Lessig, Megan;
    • Bamba, Vaneeta;
    • Lord, Katherine;
    • Zackai, Elaine H.;
    • Emanuel, Beverly S.;
    • Valverde, Kathleen;
    • McDonald‐McGinn, Donna M.
    Publication type:
    Article

  • Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 936, doi. 10.1002/ajmg.a.38645
    By:
    • Palmer, Lisa D.;
    • Butcher, Nancy J.;
    • Boot, Erik;
    • Hodgkinson, Kathleen A.;
    • Heung, Tracy;
    • Chow, Eva W. C.;
    • Guna, Alina;
    • Crowley, T. Blaine;
    • Zackai, Elaine;
    • McDonald‐McGinn, Donna M.;
    • Bassett, Anne S.
    Publication type:
    Article

  • Cover Image, Volume 173A, Number 4, April 2017.

    Published in:
    2017
    By:
    • Kruszka, Paul;
    • Addissie, Yonit A.;
    • McGinn, Daniel E.;
    • Porras, Antonio R.;
    • Biggs, Elijah;
    • Share, Matthew;
    • Crowley, T. Blaine;
    • Chung, Brian H. Y.;
    • Mok, Gary T. K.;
    • Mak, Christopher C. Y.;
    • Muthukumarasamy, Premala;
    • Thong, Meow‐Keong;
    • Sirisena, Nirmala D.;
    • Dissanayake, Vajira H. W.;
    • Paththinige, C. Sampath;
    • Prabodha, L. B. Lahiru;
    • Mishra, Rupesh;
    • Shotelersuk, Vorasuk;
    • Ekure, Ekanem Nsikak;
    • Sokunbi, Ogochukwu Jidechukwu
    Publication type:
    Other

  • 22q11.2 deletion syndrome in diverse populations.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 879, doi. 10.1002/ajmg.a.38199
    By:
    • Kruszka, Paul;
    • Addissie, Yonit A.;
    • McGinn, Daniel E.;
    • Porras, Antonio R.;
    • Biggs, Elijah;
    • Share, Matthew;
    • Crowley, T. Blaine;
    • Chung, Brian H. Y.;
    • Mok, Gary T. K.;
    • Mak, Christopher C. Y.;
    • Muthukumarasamy, Premala;
    • Thong, Meow‐Keong;
    • Sirisena, Nirmala D.;
    • Dissanayake, Vajira H. W.;
    • Paththinige, C. Sampath;
    • Prabodha, L. B. Lahiru;
    • Mishra, Rupesh;
    • Shotelersuk, Vorasuk;
    • Ekure, Ekanem Nsikak;
    • Sokunbi, Ogochukwu Jidechukwu
    Publication type:
    Article

  • Chromosome 22q11 copy number variants and single ventricle CHD.

    Published in:
    Cardiology in the Young, 2023, v. 33, n. 1, p. 101, doi. 10.1017/S1047951122000385
    By:
    • Geoffrion, Tracy R.;
    • Goldberg, David;
    • Crowley, T. Blaine;
    • Chen, Jonathan M.;
    • McDonald-McGinn, Donna M.;
    • Gaynor, J. William
    Publication type:
    Article

  • Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.

    Published in:
    NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00363-y
    By:
    • Zhao, Yingjie;
    • Wang, Yujue;
    • Shi, Lijie;
    • McDonald-McGinn, Donna M.;
    • Crowley, T. Blaine;
    • McGinn, Daniel E.;
    • Tran, Oanh T.;
    • Miller, Daniella;
    • Lin, Jhih-Rong;
    • Zackai, Elaine;
    • Johnston, H. Richard;
    • Chow, Eva W. C.;
    • Vorstman, Jacob A. S.;
    • Vingerhoets, Claudia;
    • van Amelsvoort, Therese;
    • Gothelf, Doron;
    • Swillen, Ann;
    • Breckpot, Jeroen;
    • Vermeesch, Joris R.;
    • Eliez, Stephan
    Publication type:
    Article

  • Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome Without Intracardiac Anomalies.

    Published in:
    Pediatric Cardiology, 2021, v. 42, n. 7, p. 1594, doi. 10.1007/s00246-021-02645-7
    By:
    • de Rinaldis, Chiara Pandolfi;
    • Butensky, Adam;
    • Patel, Shrey;
    • Edman, Sharon;
    • Wasserman, Melissa;
    • McGinn, Daniel E.;
    • Bailey, Alice;
    • Zackai, Elaine H.;
    • Crowley, T. Blaine;
    • McDonald-McGinn, Donna M.;
    • Min, Jungwon;
    • Goldmuntz, Elizabeth
    Publication type:
    Article

  • Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression.

    Published in:
    Clinical Genetics, 2023, v. 103, n. 1, p. 109, doi. 10.1111/cge.14227
    By:
    • Campbell, Ian M.;
    • Crowley, T. Blaine;
    • Jobaliya, Chintan;
    • Bailey, Alice;
    • McGinn, Daniel E.;
    • Gaiser, Kimberly;
    • Bassett, Anne;
    • Gur, Raquel E.;
    • Morrow, Bernice;
    • Emanuel, Beverly S.;
    • Franco, Aime T.;
    • French, Deborah;
    • Zackai, Elaine H.;
    • McDonald‐McGinn, Donna M.;
    • Lambert, Michele P.
    Publication type:
    Article

  • Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 4, p. 794, doi. 10.1007/s10875-023-01443-5
    By:
    • Bhattarai, Dharmagat;
    • McGinn, Daniel E.;
    • Crowley, T. Blaine;
    • Giunta, Victoria;
    • Gaiser, Kimberly;
    • Zackai, Elaine H.;
    • Emanuel, Beverly S.;
    • Heimall, Jennifer;
    • Jyonouchi, Soma;
    • Lee, Juhee;
    • Sun, Di;
    • McDonald-McGinn, Donna M.;
    • Sullivan, Kathleen E.
    Publication type:
    Article

  • 22q11.2 Deletion and Duplication Syndromes and COVID-19.

    Published in:
    2022
    By:
    • Crowley, T. Blaine;
    • McGinn, Donna McDonald;
    • Sullivan, Kathleen E.;
    • International q11.2 COVID group report;
    • Cancrini, Caterina;
    • Gennery, Andrew;
    • Kumararatne, Dinakantha;
    • Oskarsdottir, Solveig;
    • Richter, Alex;
    • Vergaelen, Elfi
    Publication type:
    Letter

  • Chromatin Modifications in 22q11.2 Deletion Syndrome.

    Published in:
    Journal of Clinical Immunology, 2021, v. 41, n. 8, p. 1853, doi. 10.1007/s10875-021-01123-2
    By:
    • Zhang, Zhe;
    • Shi, LiHua;
    • Song, Li;
    • Maurer, Kelly;
    • Zhao, Xue;
    • Zackai, Elaine H.;
    • McGinn, Daniel E.;
    • Crowley, T. Blaine;
    • McGinn, Donna M. McDonald;
    • Sullivan, Kathleen E.
    Publication type:
    Article

  • The Association of Fetal Thymus Size with Subsequent T Cell Counts in 22q11.2 Deletion Syndrome.

    Published in:
    2020
    By:
    • Dou, Ying;
    • Schindewolf, Erica;
    • Crowley, T. Blaine;
    • McGinn, Donna McDonald;
    • Moldenhauer, Julie S.;
    • Coleman, Beverly;
    • Oliver, Edward R.;
    • Sullivan, Kathleen E.
    Publication type:
    Letter

  • Surgical insights and management in patients with the 22q11.2 deletion syndrome.

    Published in:
    Pediatric Surgery International, 2022, v. 38, n. 6, p. 899, doi. 10.1007/s00383-022-05123-0
    By:
    • McGovern, Patrick E.;
    • Crowley, T. Blaine;
    • Zackai, Elaine H.;
    • Burrows, Evanette;
    • McDonald-McGinn, Donna M.;
    • Nance, Michael L.
    Publication type:
    Article

  • Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR).

    Published in:
    Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-69134-4
    By:
    • Pastor, Steven;
    • Tran, Oanh;
    • Jin, Andrea;
    • Carrado, Danielle;
    • Silva, Benjamin A.;
    • Uppuluri, Lahari;
    • Abid, Heba Z.;
    • Young, Eleanor;
    • Crowley, T. Blaine;
    • Bailey, Alice G.;
    • McGinn, Daniel E.;
    • McDonald-McGinn, Donna M.;
    • Zackai, Elaine H.;
    • Xie, Michael;
    • Taylor, Deanne;
    • Morrow, Bernice E.;
    • Xiao, Ming;
    • Emanuel, Beverly S.
    Publication type:
    Article

  • Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders.

    Published in:
    Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09547-8
    By:
    • Roalf, David R.;
    • McDonald-McGinn, Donna M.;
    • Jee, Joelle;
    • Krall, Mckenna;
    • Crowley, T. Blaine;
    • Moberg, Paul J.;
    • Kohler, Christian;
    • Calkins, Monica E.;
    • Crow, Andrew J.D.;
    • Fleischer, Nicole;
    • Gallagher, R. Sean;
    • Gonzenbach, Virgilio;
    • Clark, Kelly;
    • Gur, Ruben C.;
    • McClellan, Emily;
    • McGinn, Daniel E.;
    • Mordy, Arianna;
    • Ruparel, Kosha;
    • Turetsky, Bruce I.;
    • Shinohara, Russell T.
    Publication type:
    Article

  • Gastrointestinal Features of 22q11.2 Deletion Syndrome Include Chronic Motility Problems From Childhood to Adulthood.

    Published in:
    2022
    By:
    • Kotcher, Rebecca E.;
    • Chait, Daniel B.;
    • Heckert, Jason M.;
    • Crowley, T. Blaine;
    • Forde, Kimberly A.;
    • Ahuja, Nitin K.;
    • Mascarenhas, Maria R.;
    • Emanuel, Beverly S.;
    • Zackai, Elaine H.;
    • McDonald-McGinn, Donna M.;
    • Reynolds, James C.
    Publication type:
    journal article

  • Expanding Genetic Counselor Roles: A Model for Global Research Development.

    Published in:
    Genes, 2024, v. 15, n. 7, p. 867, doi. 10.3390/genes15070867
    By:
    • Muraresku, Colleen C.;
    • McCormick, Elizabeth M.;
    • Rockart, Lydia;
    • Blaine Crowley, T.;
    • Asher, Stephanie;
    • Back, Amanda;
    • Baldino, Sarah M.;
    • Bedoukian, Emma;
    • Britt, Allison D.;
    • Burrill, Natalie;
    • Cacioppo, Cara;
    • Clark, Dana Farengo;
    • Clark, Mary Egan;
    • Conway, Laura;
    • Dratch, Laynie;
    • Dubbs, Holly A.;
    • Engelhardt, Nicole M.;
    • Ginn, Natalie;
    • Gray, Christopher;
    • Hartman, Tiff
    Publication type:
    Article

  • Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.

    Published in:
    Genes, 2023, v. 14, n. 3, p. 680, doi. 10.3390/genes14030680
    By:
    • Smyk, Marta;
    • Geremek, Maciej;
    • Ziemkiewicz, Kamila;
    • Gambin, Tomasz;
    • Kutkowska-Kaźmierczak, Anna;
    • Kowalczyk, Katarzyna;
    • Plaskota, Izabela;
    • Wiśniowiecka-Kowalnik, Barbara;
    • Bartnik-Głaska, Magdalena;
    • Niemiec, Magdalena;
    • Grad, Dominika;
    • Piotrowicz, Małgorzata;
    • Gieruszczak-Białek, Dorota;
    • Pietrzyk, Aleksandra;
    • Crowley, T. Blaine;
    • Giunta, Victoria;
    • McGinn, Daniel E.;
    • Zackai, Elaine H.;
    • Tran, Oanh;
    • Emanuel, Beverly S.
    Publication type:
    Article

  • Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants.

    Published in:
    Genes, 2023, v. 14, n. 3, p. 679, doi. 10.3390/genes14030679
    By:
    • Verbesselt, Jente;
    • Solot, Cynthia B.;
    • Van Den Heuvel, Ellen;
    • Crowley, T. Blaine;
    • Giunta, Victoria;
    • Breckpot, Jeroen;
    • McDonald-McGinn, Donna M.;
    • Zink, Inge;
    • Swillen, Ann
    Publication type:
    Article

  • Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease Research.

    Published in:
    Genes, 2023, v. 14, n. 1, p. 169, doi. 10.3390/genes14010169
    By:
    • White, Lauren K.;
    • Crowley, T. Blaine;
    • Finucane, Brenda;
    • McClellan, Emily J.;
    • Donoghue, Sarah;
    • Garcia-Minaur, Sixto;
    • Repetto, Gabriela M.;
    • Fischer, Matthias;
    • Jacquemont, Sebastien;
    • Gur, Raquel E.;
    • Maillard, Anne M.;
    • Donald, Kirsten A.;
    • Bassett, Anne S.;
    • Swillen, Ann;
    • McDonald-McGinn, Donna M.
    Publication type:
    Article

  • Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome.

    Published in:
    Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101800
    By:
    • McGinn, Daniel E.;
    • Crowley, T. Blaine;
    • Heung, Tracy;
    • Tran, Oanh;
    • Moss, Edward;
    • Zackai, Elaine H.;
    • Emanuel, Beverly S.;
    • Chow, Eva W. C.;
    • Morrow, Bernice E.;
    • Swillen, Ann;
    • Bassett, Anne S.;
    • McDonald-McGinn, Donna M.
    Publication type:
    Article

  • A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome.

    Published in:
    2022
    By:
    • Pastor, Steven;
    • Tran, Oanh;
    • McGinn, Daniel E.;
    • Crowley, T. Blaine;
    • Zackai, Elaine H.;
    • McDonald-McGinn, Donna M.;
    • Emanuel, Beverly S.
    Publication type:
    Case Study